Allele Registry

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Canonical Allele Identifier: PA2827010738

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1718303

ClinVar RCV Id: RCV002299719

ClinVar Variation Id: 2810197

ClinVar RCV Id: RCV003627812

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Val1416Leu	CA394304492 NM_001318829.2:c.4246G>C CA394304496 NM_001318829.2:c.4246G>T